A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12633



Internal ID15827773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131723130..131767288hg38UCSC Ensembl
Outerchr4:131720719..131767898hg38UCSC Ensembl
Innerchr4:132644285..132688443hg19UCSC Ensembl
Outerchr4:132641874..132689053hg19UCSC Ensembl
Innerchr4:132863735..132907893hg18UCSC Ensembl
Outerchr4:132861324..132908503hg18UCSC Ensembl
Innerchr4:133001890..133046048hg17UCSC Ensembl
Outerchr4:132999479..133046658hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3847180
hg1947180
hg1847180
hg1747180
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10568
Supporting Variants
SamplesNA07048
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv12633
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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